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Novel statistical test for interpreting pathogenicity of rare variants

Researchers have developed a novel statistical test to interpret the pathogenicity of rare variants and accurately distinguish between benign and […]

BRCA2 c.9227G>T variant found to be pathogenic

Recent analysis published in Scientific Reports has concluded that c.9227G>T is a BRCA2 pathogenic variant. Variants of uncertain significance The […]

Digestive tract organs: a pathogenic route for SARS-CoV-2 infection

A recent article published in Cell Death Discovery has explored digestive symptoms of COVID-19 and the potentially pathogenic route of […]

Foodomics: The science of food

The saying ‘you are what you eat’ is the idea that the food you put in your body today impacts […]

Genomics week in brief: Week ending 14th November

Your weekly summary of recent genomics news and research! Top stories from the past week Stanford researchers have developed a […]

African genomes: Insights into human migration and health

Using whole-genome sequencing, researchers have explored the breadth of genomic diversity across Africa, gaining further insight into human migration and […]

Prioritising individuals with disease but low PRS for sequencing

A recent study, published in Genetics in Medicine, has found that prioritising individuals for sequencing who have disease but low […]

Clinical utility of exome sequencing in pregnancy loss

A recent study, published in Genetics in Medicine, has explored the clinical utility of exome sequencing for detecting monogenic aetiology […]

Genomics week in brief: Week ending 17th October

Another week of interesting and ground-breaking research, all brought to you in one place. Top stories from the past week […]

Genomics week in brief: Week ending 10th October

Bringing you another quick round-up of the top Genomics stories and news from the past week! Top stories from the […]